Product Details

SNP ID
rs148309960
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:42856190 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTAGCCTTTGGGTTATCACTTCT[C/T]GATACATAATAGAGATGTAGATAAG
Phenotype
MIM: 614649
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RNF170 PubMed Links

Gene Details

Gene
RNF170
Gene Name
ring finger protein 170
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160223.1 765 Missense Mutation CAA,CGA Q249R NP_001153695.1
NM_001160224.1 765 Intron NP_001153696.1
NM_001160225.1 765 Missense Mutation CAA,CGA Q165R NP_001153697.1
NM_030954.3 765 Missense Mutation CAA,CGA Q249R NP_112216.3
XM_006716404.2 765 Missense Mutation CAA,CGA Q249R XP_006716467.1
XM_006716405.2 765 Missense Mutation CAA,CGA Q199R XP_006716468.1
XM_011544666.2 765 Missense Mutation CAA,CGA Q249R XP_011542968.1
XM_017013881.1 765 Missense Mutation CAA,CGA Q249R XP_016869370.1
XM_017013882.1 765 Missense Mutation CAA,CGA Q165R XP_016869371.1

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